ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580149798
Gene: ACSM4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073923.1:p.Thr272Met
CA6426858
NM_001080454.2:c.815C>T