ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726261
Gene: ACTC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001174977
RCV001344624
RCV002339432
ClinVar Variation:
917758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005150.1:p.Thr162Ile
CA391631126
NM_005159.5:c.485C>T