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: PA645491502

Gene: FMR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372871

ClinVar RCV Id: RCV000413972

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002015.1:p.Tyr419Cys	CA16043179 NM_002024.5:c.1256A>G