ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256452
Gene: TPM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000357.3:p.Asp175Asn
NM_000366.6:c.523G>A