ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828764017
Gene: ALMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ser1570Phe
CA1713750
NM_001378454.1:c.4709C>T