ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499280216
Gene: ALMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.His688Tyr
CA1713270
NM_015120.4:c.2062C>T