ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830434608
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000021078
RCV000241867
RCV000710270
RCV003633482
ClinVar Variation:
21866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Val108Met
CA342583
NM_199293.3:c.322G>A