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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA347951984
Gene: SLC9A4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.103149003T>A (hg19)
chr2:g.102532544T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102532544T>A , CM000664.2:g.102532544T>A
GRCh38
NC_000002.11:g.103149003T>A , CM000664.1:g.103149003T>A
GRCh37
NC_000002.10:g.102515435T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000295269.5:c.2253T>A
MANE Select
ENSP00000295269.4:p.Phe751Leu
ENST00000295269.4:c.2253T>A
ENSP00000295269.4:p.Phe751Leu
NM_001011552.3:c.2253T>A
NP_001011552.2:p.Phe751Leu
XM_011511158.1:c.2166T>A
XP_011509460.1:p.Phe722Leu
NM_001011552.4:c.2253T>A
MANE Select
NP_001011552.2:p.Phe751Leu
Search 100 bp 5'
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