ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830435379
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000433260
RCV001782901
ClinVar Variation:
378729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Thr395Met
CA16605881
NM_199293.3:c.1184C>T