Allele Registry

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.

Canonical Allele Identifier: PA127409

Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17782

ClinVar RCV Id: RCV000019360 RCV001001070 RCV001127476 RCV001127475 RCV001127477 RCV001507896

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000333.1:p.Arg646Gln	CA127408 NM_000342.4:c.1937G>A