Canonical Allele Identifier: PA2828763862
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr1423Ser
CA1713674
NM_001378454.1:c.4267A>T
CA347277933
NM_001378454.1:c.4268C>G