ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654588
Gene: FA2H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444377
ClinVar RCV Id:
RCV000513492
RCV000541410
RCV001117253
RCV001848878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077282.3:p.Thr371Met
CA8170303
NM_024306.5:c.1112C>T