ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008243
Gene: TRPM1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001238949.1:p.Gln50Ter
NM_001252020.2:c.148C>T