ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828762666
Gene: ALMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Thr376Ser
CA1713053
NM_001378454.1:c.1126A>T
CA1713054
NM_001378454.1:c.1127C>G