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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:
CA357603074
Gene: DSPP
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.88533556A>C (hg19)
chr4:g.87612404A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612404A>C , CM000666.2:g.87612404A>C
GRCh38
NC_000004.11:g.88533556A>C , CM000666.1:g.88533556A>C
GRCh37
NC_000004.10:g.88752580A>C
NCBI36
NG_011595.1:g.8876A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.218A>C
MANE Select
ENSP00000498766.1:p.Gln73Pro
ENST00000282478.7:c.218A>C
ENSP00000282478.7:p.Gln73Pro
ENST00000399271.5:c.218A>C
ENSP00000382213.1:p.Gln73Pro
NM_014208.3:c.218A>C
MANE Select
NP_055023.2:p.Gln73Pro
Search 100 bp 5'
Search 100 bp 3'