ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825207265
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001957357
ClinVar Variation:
1425182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg413Pro
CA7644749
NM_000520.6:c.1238G>C