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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:
CA341292398
Gene: ABCA4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.94508895A>C (hg19)
chr1:g.94043339A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94043339A>C , CM000663.2:g.94043339A>C
GRCh38
NC_000001.10:g.94508895A>C , CM000663.1:g.94508895A>C
GRCh37
NC_000001.9:g.94281483A>C
NCBI36
NG_009073.1:g.82811T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000370225.4:c.3187T>G
MANE Select
ENSP00000359245.3:p.Ser1063Ala
ENST00000370225.3:c.3187T>G
ENSP00000359245.3:p.Ser1063Ala
ENST00000536513.5:c.-64-3250T>G
ENSP00000439707.2:n.-64-3250T>G
NM_000350.2:c.3187T>G
NP_000341.2:p.Ser1063Ala
NM_000350.3:c.3187T>G
MANE Select
NP_000341.2:p.Ser1063Ala
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