ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375728
Gene: FA2H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241464
ClinVar RCV Id:
RCV000229293
RCV000522066
RCV001848012
RCV003230464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077282.3:p.Tyr231His
CA10583427
NM_024306.5:c.691T>C