ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828764467
Gene: ALMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg1943Leu
CA1713948
NM_001378454.1:c.5828G>T